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hereditary sensory and autonomic neuropathy type 7
Summary
- Synonym
-
- HSAN7
- hereditary sensory and autonomic neuropathy type VII
- Definition
- A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22.
- Super Class
- autosomal dominant disease hereditary sensory neuropathy
External Links
- Disease Ontology
- DOID:0070149
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
